title: Bilateral absence of adrenal glands: a case series that expands the spectrum of associations and highlights the difficulties in prenatal diagnosis.
abstract: Adrenal agenesis (AA) defined by the complete absence of development of adrenals is a rare anomaly, which is documented mainly in experimental animals and less frequently in human subjects in the literature. This study was aimed at describing the varied phenotype of this condition in two stillborn and one termination of pregnancy fetuses and two neonates, the associated abnormalities and the difficulties encountered to achieve the prenatal diagnosis. Five cases with AA diagnosed at post-mortem examination were selected and their characteristics were analyzed. The detection of this unusual condition has usually been made as an incidental discovery at post-mortem examination. None of the cases described in this series had been diagnosed at prenatal ultrasonography. Respiratory distress was the commonest clinical presentation in the liveborn. Maternal diabetes was associated with one case. Anomalies of kidneys, lungs, spleen, and blood vessels were associated with two of the cases. No gonadal abnormalities were detected in any of the cases. These cases illustrate the varied clinical presentation of this rare condition and confirm the difficulty in achieving a prenatal diagnosis.
authors.affiliation: Department of Histopathology, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors.forename: Chitralekha
authors.initials: C
authors.lastname: Sethuraman
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Parker
authors.forename: Oliver
authors.initials: O
authors.lastname: Quarrel
authors.forename: Susan
authors.initials: S
authors.lastname: Rutter
authors.forename: Ronald R
authors.initials: RR
authors.lastname: de Krijger
authors.forename: Ricardo
authors.initials: R
authors.lastname: Drut
authors.forename: Marta C
authors.initials: MC
authors.lastname: Cohen
mesh_terms: D000311:Adrenal Glands / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis